GENES BLOG HOP
As I write this blog this morning for the Global Genes blog hop,
I can’t help but think about how many
are affected by rare diseases and how thankful that my daughter’s disease has a
treatment and we found it in time.
estimated 350 million people worldwide who are affected by rare diseases.
out of 10 Americans is affected by rare disease; however only an estimated 8,000
are affected by Addison’s disease.
are more than 7,000 rare diseases with some affecting less than 100 people and
75% of rare diseases affect children. Addison’s disease is more commonly found
in adults and is rarer in children.
80% of rare diseases are genetic in origin.
rare conditions are chronic, life threatening and FATAL. There are NO cures for
any rare disease and only 5% of diseases have any type of
50% of Rare Diseases have no foundations, advocacy group or community
unite 1 Million for RARE
Global Genes Project Facebook page so that we can increase awareness to the rare disease community.
2. Wear that You Care
(using jeans to call attention to genes that can cause rare disease) on World Rare Disease Day and encourage others to do so too. Include your school, support teams, places of worship, friends, family, and coworkers! Share your photos on Facebook. Tag Global Genes Project.
3. Donate a bracelet to the 7000 bracelets for Hope
campaign and bring hope to a child/family living with rare
4. Are you living with rare? Sign up to receive one to the 7000 Bracelets
via the Global Genes website and also join the R.A.R.E. network. My Story:
After three years of struggling trying to find out why my daughter’s stomach kept hurting, she was dizzy, weak, vomiting, and underweight. We were denied services by what is known as one of Texas’ best children’s hospitals because all of her labwork looked “normal.” You see, that was the whole problem Kyra looked normal physically and medically speaking. She still looks “normal.” October 2010, Kyra had been vomiting for about three days straight. She could hardly get up and move around. We had an appointment finally with an endocrinologist. I
had to carry her into the office. Keep in mind this is a 10 year old girl but she only weighed 70 pounds. I laid her down on a double chair that was in the office. The only thing she could so was sleep and vomit. When we got in to see the doctor, he was doing her routine vital signs, blood pressure laying, sitting, standing and standing after 10 minutes. She did good on all until she was required to continue standing. After 2 minutes of standing she went limp. The doctor immediately changed his treatment plan from looking at hypoglycemia to adrenal insufficiency.
She began treatment that same day and what a drastic improvement it was! It has been just a little over a year since that fateful day. We have had a rollercoaster ride before and since then but I am so thankful to still have my daughter by my side. She is active, plays softball and barrel races. She is now almost 5’4” and weighs 105 pounds. She is healthy, as healthy as someone with a rare disease can be anyway. We have good days and bad days. Minor injuries require stress doses of corticosteroids. For example, on Saturday, she fell and got a HUGE splinter in her thumb. After trying for over an hour to get it out before being successful, she required a stress dose because she was crashing from her Addison’s.
We have learned to appreciate life that God has given us. We take one day at a time and are thankful for the good days.
For more information on Addison’s disease check out NADF at www.nadf.us
or the KYRA Foundation at www.kyrafoundation.weebly.com
Check out the other RARE bloggers at: http://www.linkytools.com/thumbnail_linky_include.aspx?id=127101